IDDABS
MCID: INT339
MIFTS: 21

Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature (IDDABS)

Categories: Genetic diseases

Aliases & Classifications for Intellectual Developmental Disorder with Abnormal Behavior,...

MalaCards integrated aliases for Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature:

Name: Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature 57 72 6
Iddabs 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy or early childhood


HPO:

31
intellectual developmental disorder with abnormal behavior, microcephaly, and short stature:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Intellectual Developmental Disorder with Abnormal Behavior,...

UniProtKB/Swiss-Prot : 72 Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature: An autosomal recessive disorder characterized by intellectual disability, developmental delay with poor or absent speech, short stature, progressive microcephaly, hyperactivity and aggressive behavior. Some patients manifest sensorineural hearing loss.

MalaCards based summary : Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature, is also known as iddabs. An important gene associated with Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature is PUS7 (Pseudouridine Synthase 7). Affiliated tissues include eye, and related phenotypes are sensorineural hearing impairment and generalized hypotonia

More information from OMIM: 618342

Related Diseases for Intellectual Developmental Disorder with Abnormal Behavior,...

Symptoms & Phenotypes for Intellectual Developmental Disorder with Abnormal Behavior,...

Human phenotypes related to Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature:

31 (showing 24, show less)
# Description HPO Frequency HPO Source Accession
1 sensorineural hearing impairment 31 very rare (1%) HP:0000407
2 generalized hypotonia 31 very rare (1%) HP:0001290
3 delayed ability to walk 31 very rare (1%) HP:0031936
4 intellectual disability 31 HP:0001249
5 high palate 31 HP:0000218
6 global developmental delay 31 HP:0001263
7 wide nasal bridge 31 HP:0000431
8 thick vermilion border 31 HP:0012471
9 microcephaly 31 HP:0000252
10 smooth philtrum 31 HP:0000319
11 short stature 31 HP:0004322
12 everted lower lip vermilion 31 HP:0000232
13 retrognathia 31 HP:0000278
14 low-set ears 31 HP:0000369
15 epicanthus 31 HP:0000286
16 downslanted palpebral fissures 31 HP:0000494
17 open mouth 31 HP:0000194
18 highly arched eyebrow 31 HP:0002553
19 deeply set eye 31 HP:0000490
20 short philtrum 31 HP:0000322
21 hypodontia 31 HP:0000668
22 decreased body weight 31 HP:0004325
23 aggressive behavior 31 HP:0000718
24 hyperactivity 31 HP:0000752

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
smooth philtrum
retrognathia
short philtrum
dysmorphic features (in some patients)

Head And Neck Ears:
low-set ears
hearing loss, sensorineural (in some patients)

Head And Neck Teeth:
hypodontia
abnormal dentition
misaligned teeth

Neurologic Central Nervous System:
developmental delay
poor or absent speech
impaired intellectual development, moderate to severe
moderate intellectual disability
delayed walking (in some patients)

Head And Neck Nose:
broad nasal root

Growth Other:
poor overall growth

Head And Neck Head:
microcephaly (down to -6.6 sd)

Growth Height:
short stature

Head And Neck Mouth:
open mouth
high-arched palate
everted lower lip
full lips

Neurologic Behavioral Psychiatric Manifestations:
aggressive behavior
hyperactivity
short temper

Head And Neck Eyes:
downslanting palpebral fissures
epicanthal folds
deep-set eyes
arched eyebrows

Growth Weight:
low weight

Muscle Soft Tissue:
hypotonia (in some patients)

Clinical features from OMIM®:

618342 (Updated 05-Apr-2021)

Drugs & Therapeutics for Intellectual Developmental Disorder with Abnormal Behavior,...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature

Genetic Tests for Intellectual Developmental Disorder with Abnormal Behavior,...

Anatomical Context for Intellectual Developmental Disorder with Abnormal Behavior,...

MalaCards organs/tissues related to Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature:

40
Eye

Publications for Intellectual Developmental Disorder with Abnormal Behavior,...

Articles related to Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature:

(showing 3, show less)
# Title Authors PMID Year
1
PUS7 mutations impair pseudouridylation in humans and cause intellectual disability and microcephaly. 57 6
30778726 2019
2
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive Behavior. 57 6
30526862 2018
3
Next generation sequencing reveals novel homozygous frameshift in PUS7 and splice acceptor variants in AASS gene leading to intellectual disability, developmental delay, dysmorphic feature and microcephaly. 61
33100873 2020

Variations for Intellectual Developmental Disorder with Abnormal Behavior,...

ClinVar genetic disease variations for Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature:

6 (showing 9, show less)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PUS7 NM_019042.5(PUS7):c.89_90del (p.Thr30fs) Deletion Pathogenic 619230 rs752839979 GRCh37: 7:105148870-105148871
GRCh38: 7:105508423-105508424
2 PUS7 NM_019042.5(PUS7):c.1348C>T (p.Arg450Ter) SNV Pathogenic 619231 rs772282094 GRCh37: 7:105111185-105111185
GRCh38: 7:105470738-105470738
3 PUS7 NM_019042.4(PUS7):c.(1757+1_1758-1)_(1848+1_1849-1)del Deletion Pathogenic 619232 GRCh37:
GRCh38:
4 PUS7 NM_019042.5(PUS7):c.1507G>T (p.Asp503Tyr) SNV Pathogenic 619233 rs1444559235 GRCh37: 7:105108802-105108802
GRCh38: 7:105468355-105468355
5 PUS7 NM_019042.5(PUS7):c.329_332del (p.Thr110fs) Deletion Pathogenic 619234 rs1562818383 GRCh37: 7:105148628-105148631
GRCh38: 7:105508181-105508184
6 PUS7 NM_019042.5(PUS7):c.99_100del (p.Lys34fs) Deletion Likely pathogenic 807478 rs765326959 GRCh37: 7:105148860-105148861
GRCh38: 7:105508413-105508414
7 PUS7 NM_019042.5(PUS7):c.1121A>T (p.Tyr374Phe) SNV Uncertain significance 1028136 GRCh37: 7:105121553-105121553
GRCh38: 7:105481106-105481106
8 PUS7 NM_019042.5(PUS7):c.1160C>T (p.Thr387Met) SNV Uncertain significance 804242 rs916775904 GRCh37: 7:105121514-105121514
GRCh38: 7:105481067-105481067
9 PUS7 NM_019042.5(PUS7):c.398+1G>T SNV Uncertain significance 804243 rs1264890888 GRCh37: 7:105148561-105148561
GRCh38: 7:105508114-105508114

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature:

72 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 PUS7 p.Asp503Tyr VAR_082042

Expression for Intellectual Developmental Disorder with Abnormal Behavior,...

Search GEO for disease gene expression data for Intellectual Developmental Disorder with Abnormal Behavior, Microcephaly, and Short Stature.

Pathways for Intellectual Developmental Disorder with Abnormal Behavior,...

GO Terms for Intellectual Developmental Disorder with Abnormal Behavior,...

Sources for Intellectual Developmental Disorder with Abnormal Behavior,...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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